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Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.

CEN case reports

Takemasa Y, Hirano D, Kawakami Y, Tokunaga A, Umeda C, Miwa S, Kakegawa D, Ito A, Ida H.
PMID: 33616882
CEN Case Rep. 2021 Aug;10(3):426-430. doi: 10.1007/s13730-020-00566-7. Epub 2021 Feb 22.

Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin (UMOD) gene. It is characterized by the development of gout, tubulointerstitial nephropathy, and end-stage renal disease. Here we report a case of...

Management of asymptomatic hyperuricemia: Integrated Diabetes & Endocrine Academy (IDEA) consensus statement.

Diabetes & metabolic syndrome

Valsaraj R, Singh AK, Gangopadhyay KK, Ghoshdastidar B, Goyal G, Batin M, Mukherjee D, Sengupta U, Chatterjee S, Sengupta N.
PMID: 31991299
Diabetes Metab Syndr. 2020 Mar - Apr;14(2):93-100. doi: 10.1016/j.dsx.2020.01.007. Epub 2020 Jan 17.

AIM: The definition and management of asymptomatic hyperuricemia has been an area of controversy for many decades. Debate persists regarding the benefit of treating all cases of asymptomatic hyperuricemia and hence, unsurprisingly there are no clear clinical practice guidelines...

Showing 1 to 2 of 2 entries